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W

Wolfgang M. Schmidt

Center for Anatomy and Cell Biology
H指数:35
被引数:3,654

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A recurrent missense variant in the PPIB gene encoding peptidylprolyl isomerase B underlies adult-onset autosomal dominant optic atrophy

PPIB基因中的一个复发性错义变异编码肽基脯氨酰异构酶B，导致成年发病的常染色体显性视神经萎缩。

Genetics in Medicine
IF6.2
2025-10-010
OAAI
Katharina Valentin; Monika Kustermann; Mona R. Schneider; Haleh Aminfar; Kathrin Vollnhofer; Andreas Wedrich; Christoph Stapf; Martin Bertich; Markus Ritter; Theresa Mendrina; Daniel Valcanover; Walter Berger; Margret Eckhard; Andy Sombke; Stephanie V. Lilja; Amina Paquay; Bernhard Rosensteiner; Iris Schmidt; Reginald E. Bittner; Thomas P. Georgi; Berthold Pemp; Wolfgang M. Schmidt
Impaired Autophagic Flux in Skeletal Muscle of Plectin-Related Epidermolysis Bullosa Simplex With Muscular Dystrophy

骨骼肌中与肌营养不良相关的PLECTIN相关单纯性大疱性表皮松解症的自噬流受损

cachexia sarcopenia and muscle
IF0
2025-07-100
OA
Michaela M. Zrelski; Margret Eckhard; Petra Fichtinger; Sabrina Hösele; Andy Sombke; Leonid Mill; Monika Kustermann; Wolfgang M. Schmidt; Fiona Norwood; Ursula Schlötzer-Schrehardt; Gerhard Wiche; Rolf Schröder; Lilli Winter
Alternative lengthening of telomere-based immortalization renders H3G34R-mutant diffuse hemispheric glioma hypersensitive to PARP inhibitor combination regimens
NEURO-ONCOLOGY
IF13.4
2024-11-180
PRE
Laemmerer, Anna; Lehmann, Christian; Mayr, Lisa; Bruckner, Katharina; Gabler, Lisa; Senfter, Daniel; Meyer, Philipp; Balber, Theresa; Pirker, Christine; Jaunecker, Carola N.; Kirchhofer, Dominik; Vician, Petra; Griesser, Michelle; Spiegl-Kreinecker, Sabine; Schmook, Maria T.; Traub-Weidinger, Tatjana; Kuess, Peter; Eckert, Franziska; Federico, Aniello; Madlener, Sibylle; Stepien, Natalia; Robl, Bernhard; Baumgartner, Alicia; Hainfellner, Johannes A.; Dieckmann, Karin; Dorfer, Christian; Roessler, Karl; Corsini, Nina S.; Holzmann, Klaus; Schmidt, Wolfgang M.; Peyrl, Andreas; Azizi, Amedeo A.; Haberler, Christine; Beck, Alexander; Pfister, Stefan M.; Schueler, Julia; Loetsch-Gojo, Daniela; Knoblich, Juergen A.; Berger, Walter; Gojo, Johannes
The Lipid Metabolism as Target and Modulator of BOLD-100 Anticancer Activity: Crosstalk with Histone Acetylation

脂质代谢作为BOLD 100抗癌活性的靶标和调节剂: 与组蛋白乙酰化的串扰

ADVANCED SCIENCE
IF14.1
2023-09-268
OAAI
Baier, Dina; Mendrina, Theresa; Schoenhacker-Alte, Beatrix; Pirker, Christine; Mohr, Thomas; Rusz, Mate; Regner, Benedict; Schaier, Martin; Sgarioto, Nicolas; Raynal, Noel J. -M.; Nowikovsky, Karin; Schmidt, Wolfgang M.; Heffeter, Petra; Meier-Menches, Samuel M.; Koellensperger, Gunda; Keppler, Bernhard K.; Berger, Walter
Episignature analysis of moderate effects and mosaics

中等效应和镶嵌的epi签名分析

EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2023-06-2612
OAAI
Oexle, Konrad; Zech, Michael; Stuehn, Lara G.; Siegert, Sandy; Brunet, Theresa; Schmidt, Wolfgang M.; Wagner, Matias; Schmidt, Axel; Engels, Hartmut; Tilch, Erik; Monestier, Olivier; Destree, Anne; Hanker, Britta; Boesch, Sylvia; Jech, Robert; Berutti, Riccardo; Kaiser, Frank; Haslinger, Bernhard; Haack, Tobias B.; Garavaglia, Barbara; Krawitz, Peter; Winkelmann, Juliane; Mirza-Schreiber, Nazanin
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
JOURNAL OF MEDICAL GENETICS
IF3.7
2021-10-2123
OAAI
Serpieri, Valentina; D'Abrusco, Fulvio; Dempsey, Jennifer C.; Cheng, Yong-Han Hank; Arrigoni, Filippo; Baker, Janice; Battini, Roberta; Bertini, Enrico Silvio; Borgatti, Renato; Christman, Angela K.; Curry, Cynthia; D'Arrigo, Stefano; Fluss, Joel; Freilinger, Michael; Gana, Simone; Ishak, Gisele E.; Leuzzi, Vincenzo; Loucks, Hailey; Manti, Filippo; Mendelsohn, Nancy; Merlini, Laura; Miller, Caitlin, V; Muhammad, Ansar; Nuovo, Sara; Romaniello, Romina; Schmidt, Wolfgang; Signorini, Sabrina; Siliquini, Sabrina; Szczaluba, Krzysztof; Vasco, Gessica; Wilson, Meredith; Zanni, Ginevra; Boltshauser, Eugen; Doherty, Dan; Valente, Enza Maria
Telomerase Reverse Transcriptase Promoter Mutations Identify a Genomically Defined and Highly Aggressive Human Pleural Mesothelioma Subgroup
CLINICAL CANCER RESEARCH
IF10.2
2020-07-1524
OAAI
Pirker, Christine; Bilecz, Agnes; Grusch, Michael; Mohr, Thomas; Heidenreich, Barbara; Laszlo, Viktoria; Stockhammer, Paul; Loetsch-Gojo, Daniela; Gojo, Johannes; Gabler, Lisa; Spiegl-Kreinecker, Sabine; Dome, Balazs; Steindl, Ariane; Klikovits, Thomas; Hoda, Mir Alireza; Jakopovic, Marko; Samarzija, Miroslav; Mohorcic, Katja; Kern, Izidor; Kiesel, Barbara; Brcic, Luka; Oberndorfer, Felicitas; Muellauer, Leonhard; Klepetko, Walter; Schmidt, Wolfgang M.; Kumar, Rajiv; Hegedus, Balazs; Berger, Walter
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

双等位基因功能丧失P4HTM基因变异导致肌张力减退、通气不足、智力残疾、自主神经功能异常、癫痫和眼部异常 (hdea综合征)

GENETICS IN MEDICINE
IF6.2
2019-10-0120
OAAI
Rahikkala, Elisa; Myllykoski, Matti; Hinttala, Reetta; Vieira, Paivi; Nayebzadeh, Naemeh; Weiss, Simone; Plomp, Astrid S.; Bittner, Reginald E.; Kurki, Mitja I.; Kuismin, Outi; Lewis, Andrea M.; Vaisanen, Marja-Leena; Kokkonen, Hannaleena; Westermann, Jonne; Bernert, Gunther; Tuominen, Hannu; Palotie, Aarno; Aaltonen, Lauri; Yang, Yaping; Potocki, Lorraine; Moilanen, Jukka; van Koningsbruggen, Silvana; Wang, Xia; Schmidt, Wolfgang M.; Koivunen, Peppi; Uusimaa, Johanna
Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy
JOURNAL OF PEDIATRICS
IF3.5
2019-01-0124
OAAI
Aartsma-Rus, Annemieke; Hegde, Madhuri; Ben-Omran, Tawfeg; Buccella, Filippo; Ferlini, Alessandra; Gallano, Pia; Howell, R. Rodney; Leturcq, France; Martin, Ann S.; Potulska-Chromik, Anna; Saute, Jonas A.; Schmidt, Wolfgang M.; Sejersen, Thomas; Tuffery-Giraud, Sylvie; Uyguner, Zehra Oya; Witcomb, Luci A.; Yau, Shu; Nelson, Stanley F.

研究方向

暂未获取到该数据
R
Reginald E. Bittner
H 指数:38论文数:118被引数:4,994
R
Robert M. Mader
H 指数:41论文数:422被引数:5,411
W
Walter Berger
H 指数:71论文数:810被引数:2.0万
G
Georg Krupitza
H 指数:39论文数:173被引数:6,846
E
Eugen Boltshauser
H 指数:72论文数:604被引数:1.7万
M
Manfred W. Mueller
H 指数:19论文数:40被引数:1,500
M
Michael Freilinger
H 指数:26论文数:97被引数:2,220
C
Christine Pirker
H 指数:36论文数:256被引数:4,098
M
Monika Kustermann
H 指数:10论文数:29被引数:641
S
Sandy Siegert
H 指数:10论文数:40被引数:946